Variant report
| Variant | esv3347977 |
|---|---|
| Chromosome Location | chr2:189743298-189743817 |
| allele | n/a |
| Outlinks | Ensembl UCSC |
- TF binding region (count:0)
- CpG islands (count:0)
- Chromatin interactive region (count:0)
- LncRNA region (count:0)
- Mature miRNA region (count: 0)
- miRNA target sites (count:0)
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
| No data |
Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page:
1
| No. | Variant name | Chromosome position | Chromatin state | Related regulatory elements | Target genes | Extended variants | Associated traits |
|---|---|---|---|---|---|---|---|
| 1 | rs1201156 | chr2:189743358-189743359 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 2 | rs538560748 | chr2:189743372-189743373 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 3 | rs6746832 | chr2:189743375-189743376 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 4 | rs367636890 | chr2:189743379-189743380 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 5 | rs190010673 | chr2:189743381-189743382 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 6 | rs6434300 | chr2:189743414-189743415 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 7 | rs551891450 | chr2:189743419-189743420 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 8 | rs6760322 | chr2:189743426-189743427 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 9 | rs1516452 | chr2:189743492-189743493 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 10 | rs1516453 | chr2:189743533-189743534 | Weak transcription Enhancers | n/a | n/a | LD-proxies of rSNPOverlapped rCNV | n/a |
| 11 | rs182782625 | chr2:189743559-189743560 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 12 | rs137915509 | chr2:189743565-189743566 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 13 | rs113924140 | chr2:189743574-189743575 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 14 | rs371685445 | chr2:189743636-189743637 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 15 | rs574127778 | chr2:189743691-189743692 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 16 | rs188896394 | chr2:189743715-189743716 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 17 | rs143870759 | chr2:189743726-189743727 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 18 | rs531317577 | chr2:189743743-189743744 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 19 | rs549703793 | chr2:189743764-189743765 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 20 | rs571202995 | chr2:189743778-189743779 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 21 | rs538916094 | chr2:189743805-189743806 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
| 22 | rs553687675 | chr2:189743807-189743808 | Weak transcription Enhancers | n/a | n/a | Overlapped CNVs | n/a |
Variant related diseases (count:51)
| Disease | PMID | Source |
|---|---|---|
| Breast cancer | 17603634 | CNVD |
| Ewing''s sarcoma | 21437220 | CNVD |
| Glioblastoma multiforme | 21080181 | CNVD |
| Medulloblastoma | 21979893 | CNVD |
| Ependymoma | 16718352 | CNVD |
| Thoracic aortic aneurysm | 21092924 | CNVD |
| Melanoma | 18172304 | CNVD |
| Cancer | 16751803 | CNVD |
| T-cell prolymphocytic leukemia | 19278963 | CNVD |
| Acute lymphoblastic leukemia | 20067559 | CNVD |
| Acute lymphoblastic leukemia | 21980252 | CNVD |
| Testicular germ cell tumor | 18059402 | CNVD |
| Breast cancer | 16272173 | CNVD |
| Ewing''s sarcoma | 17952124 | CNVD |
| Cancer | 21637783 | CNVD |
| Non-syndromic sensorineural hearing loss | 18471307 | CNVD |
| Esophageal squamous carcinoma | 21637470 | CNVD |
| Liposarcoma | 21253554 | CNVD |
| Endometrial cancer | 22040021 | CNVD |
| Breast cancer | 21264507 | CNVD |
| Embryonal rhabdomyosarcoma | 16790082 | CNVD |
| Autism | 16446308 | CNVD |
| Autism | 19401682 | CNVD |
| Colorectal cancer | 16272173 | CNVD |
| Hodgkin''s lymphoma | 17606441 | CNVD |
| Lung cancer | 18438408 | CNVD |
| Glioblastoma | 21080181 | CNVD |
| Prostate cancer | 18632612 | CNVD |
| Acute myeloid leukemia | 20729466 | CNVD |
| small cell lung cancer | 20016488 | CNVD |
| Facial dysmorphism | 20548289 | CNVD |
| Mental retardation | 20548289 | CNVD |
| Biliary cancer | 20360734 | CNVD |
| Breast cancer | 20360734 | CNVD |
| Coronary artery disease | 20360734 | CNVD |
| Crohn''s disease | 20360734 | CNVD |
| Hypertension | 20360734 | CNVD |
| Rheumatoid arthritis | 20360734 | CNVD |
| Type 1 diabetes | 20360734 | CNVD |
| Type 2 diabetes | 20360734 | CNVD |
| Breast cancer | 21364760 | CNVD |
| Hirschsprung''s Disease | 21712996 | CNVD |
| Cancer | 21183584 | CNVD |
| Urothelial carcinoma | 21177765 | CNVD |
| Ovarian cancer | 21720365 | CNVD |
| Immune disease | 21076436 | CNVD |
| Immune disease | 21042300 | CNVD |
| Colorectal cancer | 16912164 | CNVD |
| Cancer | 20164919 | CNVD |
| Breast cancer | 22522925 | CNVD |
| Pancreatic ductal adenocarcinoma | 19077451 | CNVD |
| No. | Chromosome Location | Chromatin state | Cell line | Tissue |
|---|---|---|---|---|
| 1 | chr2:189739000-189755600 | Weak transcription | Aorta | Aorta |
| 2 | chr2:189743200-189744000 | Weak transcription | Fetal Stomach | stomach |
| 3 | chr2:189743200-189745000 | Enhancers | Fetal Lung | lung |
